Human/Medical Genetics
Human/Medical Genetics & Molecular Diagnostics
Genetic and Molecular analysis of inherited disorders, mapping genes, screening mutations, DNA based diagnostics and its application in biomedical problems
Research in our laboratory focuses on the identification, localization (genetic loci) and characterization of genes responsible for the inherited genetic disorders and complex traits in human populations. Our approach for studying these events follows population genetics, linkage-based mapping, molecular genetics and statistical genetics. We utilize different forms of linkage analysis, mutation analysis, genome wide association studies and gene expression studies. The main aim of these studies is to identify the genes that are influenced by variants to predispose to these diseases, and to understand the etiopathogenesis from genetic variation to clinical disease. The long term aim is to transfer this knowledge to applications, such as development of genetic diagnostics and treatments, in humans.
Current projects aimed in our lab
- Investigation of the gene expression and characterization of selected genes associated with otosclerosis
- Identification of Genetic Susceptibility to Chronic or Recurrent Otitis Media with Effusion
- Molecular Genetic studies of congenital hearing impairment
- Genetic Analysis of Otosclerosis: Mapping Gene(s) and Screening of Candidate Genes for Mutations
- Understanding the genetic basis and molecular mechanisms of paediatric rare genetic disorders
Human/Medical Genetics
Publications
- Singh N, Hansdah K, Bouzid A, Ray CS, Desai A, Panda KC, Choudhury JC, Tekari A, Masmoudi S, Ramchander PV. Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis. Journal of Human Genetics, 2023. https://doi.org/10.1038/s10038-023-01158-w
- Priyadarshi S, Hansdah K, Singh N, Bouzid A, Ray CS, Panda KC, Biswal NC, Desai A, Choudhury JC, Tekari A, Masmoudi S, Ramchander PV. The risks of RELN polymorphisms and its expression in the development of otosclerosis. PLoS ONE. 2022 17(6): e0269558. https://doi.org/10.1371/journal. pone.0269558
- Bouzid A, Chelly A, Tekari A, Singh N, Hansdah K, Achour I, Ben Ayed I, Jbeli F, Charfeddine I, Ramchander PV, Hamoudi R and Masmoudi S. Genetic Association of rs1021188 and DNA Methylation Signatures of TNFSF11 in the Risk of Conductive Hearing Loss. Front. Med. 2022; 9:870244. doi: 10.3389/fmed.2022.870244
- Kondyarpu A, Ray CS, Panda KC, Biswal NC, Ramchander PV. Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients. J Clin Lab Anal. 2021;00:e23702. https://doi.org/10.1002/jcla.23702.
- Hansdah K, Singh N, Bouzid A, Priyadarshi S, Ray CS, Desai A, Panda KC, Choudhury JC, Biswal NC, Tekari A, Masmoudi S, Ramchander PV. Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis. Genetic Testing and Molecular Biomarkers. 2020, DOI: 10.1089/gtmb.2019.0235.
- Bouzid A, Tekari A, Jbeli F, Chakroun A, Hansdah K, Souissi A, Singh N, Mosrati M, Achour I, Ghorbel A, Charfeddine I, Ramchander PV, Masmoudi S. Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis. BMC Medical Genetics. 2020, DOI: 10.1186/s12881-020-01036-8
- Panda KC, Bhuyan L, Ramchander PV. Association of sudden sensorineural hearing loss with chronic periodontitis: a hospital-based study in India. Hearing, Balance and Communication. 2020, DOI: 10.1080/21695717.2020.1719786.
- Manohar S, Ramchander PV, Salvi R, Seigel GM. Synaptic Reorganization Response in the Cochlear Nucleus Following Intense Noise Exposure. Neuroscience. 2019, 399:184-198.
- Priyadarshi S, Hansdah K, Ray CS, Biswal NC, Ramchander PV. Otosclerosis Associated with a De Novo Mutation −832G>A in the TGFB1 Gene Promoter Causing a Decreased Expression Level. Scientific Reports. 2016, 6: 29572; doi: 10.1038/srep29572
- Priyadarshi S, Ray CS, Biswal NC, Nayak SR, Panda KC, Desai A, Ramchander PV. Genetic Association and Altered Gene Expression of Osteoprotegerin in Otosclerosis Patients. Annals of Human Genetics. 2015; DOI: 10.1111/ahg.12118
- Priyadarshi S, Panda KC, Ray CS, Desai A, Nayak SR, Biswal NC, Ramchander PV. Genetic association and gene expression analysis of TGFB1 contributes towards the susceptibility to otosclerosis. J Bone Miner Res. 2013; DOI: 10.1002/jbmr.1991.
- Padma G, Ramchander PV, Nandur VU, Ravi Kumar K, Padma T: Novel Mutations Affecting the Secondary Structure of MT-RNR1 Gene: A Causal Relationship with Profound Nonsyndromic Hearing Impairment. Genetic Testing and Molecular Biomarkers. 2012, 16: 1092-1097.
- Saurabh Priyadarshi, Panda KC, Panda AK, Ramchander PV: Lack of association between the SNP rs3914132 of RELN gene and otosclerosis in India. Genet. Mol. Res. 2010; 9: 1914-1920.
- Ramchander PV, Panda KC, Panda AK: Mutations in the Connexin 29 Gene are not a Major cause of Non-syndromic Hearing Impairment in India. Genetic Testing and Molecular Biomarkers. 2010; 14: 539-541.
- Padma G, Ramchander PV, Nandur UV, Padma T. A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation. Int. J. Genet. Mol. Biol. 2010; 2: 126-129.
- Padma G, Ramchander PV, Nandur UV, Padma T. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J. Genet 2009; 88: 267–272.
- Padma G, Padma T, Ramchander PV, Nandur UV. Mitochondrial gene mutations as a cause of non-syndromic hearing impairment among probands from Andhra Pradesh. Genomic Med. 2008; 2: 241–252.
- Subramanian Dhivya, Madhavan HN, Rao CM, Rao KS, Ramchander PV, Therese KL, Malathi J. Comparison of a novel semi-nested polymerase chain reaction (PCR) with a uniplex PCR for the detection of Acanthamoeba genome in corneal scrapings. Parasitology Research 2007; 100: 1303-1309.
- Ramchander PV, Nandur VU, Dwarakanath K, Vishnupriya S, Padma T: Prevalence of Cx26 gene (GJB2) Mutations Causing Recessive Nonsyndromic Hearing Impairment in India. Int. J Hum Genet. 2005; 5(4): 241-246.
- Ramchander PV, Nandur VU, Dwarakanath K, Vishnupriya S, Padma T: Study of Families of Nonsyndromic Hearing Impairment Segregating with mutations in Cx26 gene. Indian J Hum Genet. 2004; 10(2): 58-64.
Patents & Products
Inventors: Mohan Rao Ch, Sridhar Rao K, Ramchander PV, Madhavan HN, Savitri Sharma, Gita Satpathy, Ravi Kumar BV. Title: Method for Simultaneous Detection and Discrimination of Bacterial, Fungal, Parasitic and Viral Infections of Eye and Central Nervous System. United States Patent: US8465951B2, Date of Patent: 18.06.2013 (Granted).
Inventors: Mohan Rao Ch, Sridhar Rao K, Ramchander PV, Madhavan HN, Savitri Sharma, Gita Satpathy, Ravi Kumar BV. Title: A Novel Method for Simultaneous Detection and Discrimination of Bacterial, Fungal, Parasitic and Viral Infections of Eye and Central Nervous System. Patent publication numbers: PCT/IN2008/000334; AR066825A1; N200701178-I1; CN101541979A; AU2008256216A1; EP2155909A2; IL202459D0, NZ582232A; CA2689306A1; KR2010044736A; JP2010528599A; PH12009502297A; VN23743A; TW200907057A (Filed).
Mohan Rao Ch, Sridhar Rao K, Ramchander PV et al: Developed a DNA based diagnostic chip for identifying the pathogens causing eye disease. The technology was transferred to the Xcyton Diagnostics Pvt. Ltd for product development. The same principles and technology can be extended to identification of infecting organisms in other diseases as well.Received ‘2009 BioSingapore Asia Pacific Biotechnology Award’ under the category “Most Important Technology Development”.
Submission of unpublished variants
Ramchander, PV 2013. dbSNP: TGFB1 c.-832G>A; status confirmed ‘rs368915262’
Ramchander, PV 2010. dbSNP: NM_181538.1:c.569T>A_1286185218; status confirmed ‘rs121908693’
Padma,Gunda; Ramchander, P.V., 2008. MITOMAP mtDNA Sequence Data, http://www.mitomap.org/cgi-bin/tbl15gen.pl#20081105001
Padma,Gunda; Ramchander, P.V., 2008. MITOMAP mtDNA Sequence Data, http://www.mitomap.org/cgi-bin/tbl15gen.pl#20081106001
Padma,Gunda; Ramchander, P.V., 2008. MITOMAP mtDNA Sequence Data, http://www.mitomap.org/cgi-bin/tbl15gen.pl#20081106002
Post-doctoral Position (Human/Medical Genetics)
We are looking for postdoctoral researcher with a successful PhD degree and experience in the area of genetics, molecular biology, general animal experimentation, cell biology and bioinformatics. The candidates should have a valid fellowship from any funding agency (DBT/CSIR/ICMR/SERB etc.) or interested candidates can contact me for writing the proposal to the funding agencies. Please send your CV along with 1-2 pages about your research activities to pramchander@yahoo.com or pvram@ils.res.in.